Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.

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Title: Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
Authors: Lenz D; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Stahl M; Department of Translational Pulmonology, Translational Lung Research Center Heidelberg (TLRC), German Centre for Lung Research (DZL), University of Heidelberg, Heidelberg, Germany.; Department of Pediatric Pulmonology, Immunology and Intensive Care Medicine, Charité-Universitätsmedizin Berlin, Berlin, Germany., Seidl E; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany., Schöndorf D; Division of Pediatric Pulmonology and Allergy and Cystic Fibrosis Center, Department of Pediatrics, University of Heidelberg, Heidelberg, Germany., Brennenstuhl H; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Gesenhues F; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany., Heinzmann T; Department of Neonatology, Department of Pediatrics, University of Heidelberg, Heidelberg, Germany., Longerich T; Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany., Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Prokisch H; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Schön C; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Sommerburg O; Department of Translational Pulmonology, Translational Lung Research Center Heidelberg (TLRC), German Centre for Lung Research (DZL), University of Heidelberg, Heidelberg, Germany.; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany., Westhoff JH; Department of Pediatrics I, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Reiter K; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany., Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Griese M; Dr. von Haunersches Kinderspital, University of Munich, German Center for Lung Research (DZL), Munich, Germany.
Source: Pediatric pulmonology [Pediatr Pulmonol] 2020 Nov; Vol. 55 (11), pp. 3057-3066. Date of Electronic Publication: 2020 Sep 07.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1099-0496
DOI:10.1002/ppul.25031